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Page 1
Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Hanson H, Astiazaran-Symonds E, Amendola LM, Balmaña J, Foulkes WD, James P, Klugman S, Ngeow J, Schmutzler R, Voian N, Wick MJ, Pal T, Tischkowitz M, Stewart DR; ACMG Professional Practices and Guidelines Committee. Electronic address: documents@acmg.net. Hanson H, et al. Among authors: astiazaran symonds e. Genet Med. 2023 Oct;25(10):100870. doi: 10.1016/j.gim.2023.100870. Epub 2023 Jul 25. Genet Med. 2023. PMID: 37490054 Free PMC article.
Gene-Level Associations in Patients With and Without Pathogenic Germline Variants in CDKN2A and Pancreatic Cancer.
Astiazaran-Symonds E, Graham C, Kim J, Tucker MA, Ingvar C, Helgadottir H, Pastorino L, van Doorn R, Sampson JN, Zhu B, Bruno W, Queirolo P, Fornarini G, Sciallero S, Carter B, Hicks B, Hutchinson A, Jones K, Stewart DR, Chanock SJ, Freedman ND, Landi MT, Höiom V, Puig S, Gruis N, Yang XR, Ghiorzo P, Goldstein AM. Astiazaran-Symonds E, et al. JCO Precis Oncol. 2022 Nov;6:e2200145. doi: 10.1200/PO.22.00145. JCO Precis Oncol. 2022. PMID: 36409970 Free PMC article.
Cancer in Costello syndrome: a systematic review and meta-analysis.
Astiazaran-Symonds E, Ney GM, Higgs C, Oba L, Srivastava R, Livinski AA, Rosenberg PS, Stewart DR. Astiazaran-Symonds E, et al. Br J Cancer. 2023 Jun;128(11):2089-2096. doi: 10.1038/s41416-023-02229-7. Epub 2023 Mar 25. Br J Cancer. 2023. PMID: 36966234 Free PMC article.
Estimated Prevalence, Tumor Spectrum, and Neurofibromatosis Type 1-Like Phenotype of CDKN2A-Related Melanoma-Astrocytoma Syndrome.
Sargen MR, Kim J, Potjer TP, Velthuizen ME, Martir-Negron AE, Odia Y, Helgadottir H, Hatton JN, Haley JS, Thone G, Widemann BC, Gross AM, Yohe ME, Kaplan RN, Shern JF, Sundby RT, Astiazaran-Symonds E, Yang XR, Carey DJ, Tucker MA, Stewart DR, Goldstein AM. Sargen MR, et al. Among authors: astiazaran symonds e. JAMA Dermatol. 2023 Oct 1;159(10):1112-1118. doi: 10.1001/jamadermatol.2023.2621. JAMA Dermatol. 2023. PMID: 37585199 Free PMC article.
Association of germline variants in telomere maintenance genes (POT1, TERF2IP, ACD, and TERT) with spitzoid morphology in familial melanoma: A multi-center case series.
Goldstein AM, Qin R, Chu EY, Elder DE, Massi D, Adams DJ, Harms PW, Robles-Espinoza CD, Newton-Bishop JA, Bishop DT, Harland M, Holland EA, Cust AE, Schmid H, Mann GJ, Puig S, Potrony M, Alos L, Nagore E, Millán-Esteban D, Hayward NK, Broit N, Palmer JM, Nathan V, Berry EG, Astiazaran-Symonds E, Yang XR, Tucker MA, Landi MT, Pfeiffer RM, Sargen MR. Goldstein AM, et al. Among authors: astiazaran symonds e. JAAD Int. 2023 Jan 30;11:43-51. doi: 10.1016/j.jdin.2023.01.013. eCollection 2023 Jun. JAAD Int. 2023. PMID: 36876055 Free PMC article.
Response to Stern.
Hanson H, Astiazaran-Symonds E, Amendola LM, Balmaña J, Foulkes WD, James P, Klugman S, Ngeow J, Schmutzler R, Voian N, Wick MJ, Pal T, Tischkowitz M, Stewart DR. Hanson H, et al. Among authors: astiazaran symonds e. Genet Med. 2024 Feb;26(2):101030. doi: 10.1016/j.gim.2023.101030. Epub 2023 Dec 29. Genet Med. 2024. PMID: 38156990 No abstract available.
Fabry Disease: An Uncommon Cause of Renal Failure.
López PD, Andreias L, Astiazarán-Symonds E, Chalabi J. López PD, et al. Among authors: astiazaran symonds e. Am J Med. 2017 Sep;130(9):e389-e390. doi: 10.1016/j.amjmed.2017.02.047. Epub 2017 Apr 5. Am J Med. 2017. PMID: 28389313 No abstract available.